nsv539411
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:94,744
- Publication(s):Cooper et al. 2011
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 546 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 546 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 213 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv539411 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 5,481,078 | 5,575,821 |
| nsv539411 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 5,338,600 | 5,433,343 |
| nsv539411 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 5,326,008 | 5,420,751 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1163070 | copy number loss | 9887548 | Oligo aCGH | Probe signal intensity | nssv1172595, nssv1162339 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1163070 | Remapped | Perfect | NC_000008.11:g.(?_ 5481078)_(5575821_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 5,481,078 | 5,575,821 |
| nssv1163070 | Remapped | Perfect | NC_000008.10:g.(?_ 5338600)_(5433343_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 5,338,600 | 5,433,343 |
| nssv1163070 | Submitted genomic | NC_000008.9:g.(?_5 326008)_(5420751_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 5,326,008 | 5,420,751 |